POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition
Sign Up to like & getrecommendations! Published in 2022 at "Cell Cycle"
DOI: 10.1080/15384101.2022.2044136
Abstract: ABSTRACT We showed previously that POLG mutations cause major changes in mitochondrial function, including loss of mitochondrial respiratory chain (MRC) complex I, mitochondrial DNA (mtDNA) depletion and an abnormal NAD+/NADH ratio in both neural stem… read more here.
Keywords: polg mutations; mitochondrial remodeling; differentiation; stem ... See more keywords
POLG mutations presenting as Charcot‐Marie‐Tooth disease
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DOI: 10.1111/jns.12313
Abstract: We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted… read more here.
Keywords: marie tooth; charcot marie; polg mutations; tooth disease ... See more keywords